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HAS1 hyaluronan synthase 1 [ Homo sapiens (human) ]

Gene ID: 3036, updated on 23-Nov-2021

Summary

Official Symbol
HAS1provided by HGNC
Official Full Name
hyaluronan synthase 1provided by HGNC
Primary source
HGNC:HGNC:4818
See related
Ensembl:ENSG00000105509 MIM:601463
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HAS
Summary
Hyaluronan or hyaluronic acid (HA) is a high molecular weight unbranched polysaccharide synthesized by a wide variety of organisms from bacteria to mammals, and is a constituent of the extracellular matrix. It consists of alternating glucuronic acid and N-acetylglucosamine residues that are linked by beta-1-3 and beta-1-4 glycosidic bonds. HA is synthesized by membrane-bound synthase at the inner surface of the plasma membrane, and the chains are extruded through pore-like structures into the extracellular space. It serves a variety of functions, including space filling, lubrication of joints, and provision of a matrix through which cells can migrate. HA is actively produced during wound healing and tissue repair to provide a framework for ingrowth of blood vessels and fibroblasts. Changes in the serum concentration of HA are associated with inflammatory and degenerative arthropathies such as rheumatoid arthritis. In addition, the interaction of HA with the leukocyte receptor CD44 is important in tissue-specific homing by leukocytes, and overexpression of HA receptors has been correlated with tumor metastasis. HAS1 is a member of the newly identified vertebrate gene family encoding putative hyaluronan synthases, and its amino acid sequence shows significant homology to the hasA gene product of Streptococcus pyogenes, a glycosaminoglycan synthetase (DG42) from Xenopus laevis, and a recently described murine hyaluronan synthase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
Expression
Broad expression in appendix (RPKM 1.7), ovary (RPKM 1.2) and 14 other tissues See more
Orthologs
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Genomic context

See HAS1 in Genome Data Viewer
Location:
19q13.41
Exon count:
5
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (51713112..51723991, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (52216365..52227244, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene SPACA6 antisense RNA 1 Neighboring gene sperm acrosome associated 6 Neighboring gene microRNA let-7e Neighboring gene microRNA 125a Neighboring gene formyl peptide receptor 1 Neighboring gene formyl peptide receptor 2

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Discovery and refinement of loci associated with lipid levels.
GeneReviews: Not available

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope transmembrane glycoprotein gp41 env A synthetic peptide corresponding to the immunosuppressive domain (amino acids 574-592) of HIV-1 gp41 upregulates the expression of hyaluronan synthase 1 (HAS1) in peptide-treated PBMCs PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables hyaluronan synthase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables hyaluronan synthase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables hyaluronan synthase activity TAS
Traceable Author Statement
more info
 
enables identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
is_active_in integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
hyaluronan synthase 1
Names
HA synthase 1
hyaluronate synthase 1
hyaluronic acid synthase 1
NP_001284365.1
NP_001514.2
XP_011525186.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001297436.2NP_001284365.1  hyaluronan synthase 1 isoform 2

    See identical proteins and their annotated locations for NP_001284365.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. It encodes isoform 2, which is shorter by an amino acid, compared to isoform 1.
    Source sequence(s)
    AM904814, BC035837, BX371636
    Consensus CDS
    CCDS74436.1
    UniProtKB/TrEMBL
    D2N2G5, G3V1S7, Q8IYH3
    Related
    ENSP00000445021.2, ENST00000540069.7
    Conserved Domains (2) summary
    TIGR04242
    Location:51487
    nodulat_NodC; chitooligosaccharide synthase NodC
    cl11394
    Location:95385
    Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold
  2. NM_001523.4NP_001514.2  hyaluronan synthase 1 isoform 1

    See identical proteins and their annotated locations for NP_001514.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AM904814, BC035837, U59269
    Consensus CDS
    CCDS12838.1
    UniProtKB/Swiss-Prot
    Q92839
    UniProtKB/TrEMBL
    D2N2G5, Q8IYH3
    Related
    ENSP00000222115.1, ENST00000222115.5
    Conserved Domains (1) summary
    cl11394
    Location:96386
    Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    51713112..51723991 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011526884.2XP_011525186.1  hyaluronan synthase 1 isoform X1

    Conserved Domains (1) summary
    cl11394
    Location:96310
    Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold
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